Canonical Allele Identifier: CA16611097

Gene: VHL

Linked Data

• ClinVar Variation Id: 411968
• ClinVar RCV Id: RCV000464021 ; RCV003168861
• dbSNP Id: rs1060503558
• MyVariant Identifiers: chr3:g.10191586T>A (hg19) ; chr3:g.10149902T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149902T>A , CM000665.2:g.10149902T>A	GRCh38
NC_000003.11:g.10191586T>A , CM000665.1:g.10191586T>A	GRCh37
NC_000003.10:g.10166586T>A	NCBI36
NG_008212.3:g.13268T>A , LRG_322:g.13268T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*256T>A	ENSP00000512434.1:n.*256T>A
ENST00000696143.1:c.715T>A	ENSP00000512435.1:n.715T>A
ENST00000696153.1:c.690T>A	ENSP00000512444.1:p.Asn230Lys
ENST00000256474.3:c.579T>A MANE Select	ENSP00000256474.3:p.Asn193Lys
ENST00000256474.2:c.579T>A	ENSP00000256474.2:p.Asn193Lys
ENST00000345392.2:c.456T>A	ENSP00000344757.2:p.Asn152Lys
ENST00000477538.1:n.715T>A
NM_000551.3:c.579T>A , LRG_322t1:c.579T>A	NP_000542.1:p.Asn193Lys
NM_198156.2:c.456T>A	NP_937799.1:p.Asn152Lys
NM_001354723.1:c.*133T>A	NP_001341652.1:n.*133T>A
NM_000551.4:c.579T>A MANE Select	NP_000542.1:p.Asn193Lys
NM_001354723.2:c.*133T>A	NP_001341652.1:n.*133T>A
NM_198156.3:c.456T>A	NP_937799.1:p.Asn152Lys